NNPDF Family Conference 2011

This year the NNPDF Family Conference was held in Norfolk, VA at the end of July. Sy and I took Tylor along with Sy's Mom and Stepdad. We drove down, it took us about 18 hours. We arrive in Norfolk around 6:30am and I couldn't believe it the hotel had one room ready for us. So the five of us crashed for a few hours before hitting the sites.

Norfolk is beautiful! The view from our room was of the Naval ship yard and the Bay area. We did a little site seeing our first day there but it was also the start of the conference so we couldn't do a lot.

It was so nice to see the families we met in Seattle. We had over 225 people attend this years conference which makes it the biggest one to date!! There were a lot of new families so it was great to connect and bond with them. It is crazy how you can connect with someone you never met just because of this horrible disease. Also this year there were about 26 kids there....all I can say is WOW! I loved seeing all the kids interacting with one another. Our children are so precious.

Well I guess I should get on with what we learned at the conference.

On Friday we heard from Dr. Marie Vanier, she has been researching this disease for three decades, Dr. Dan Ory, Dr. Steve Walkley, and Dr. Fran Platt. This group of doctors gave an overview of NPC Disease research, Support of Accelerated Research (SOAR) updates, Updates on Miglustat and Cyclodextrin as therapeutics for NPC and combination therapy for NPC.

On Saturday we heard from Dr. Marc Patterson, Dr. Kasturi Halder, Dr. Dan Ory, and Dr. Denny Porter. This group talked about medical and clinical update. The topics included: NPC intro adn overview, assistance of undergrads in charaterizing clinical progression for NPC, biomarkers for NPC, development of the NIH Cyclodextrin clinical trial.

Through out the weekend we also did a lot of brainstorming on how to raise money for research for National Niemann Pick Awareness Month in October. We got to listen to the famous Humorist, Carol Ann Small, we learned about an iPad can help our children communicate with us better and of course we had a beautiful banquet dinner to end the conference.

Carol Ann Small

I talked with Dr. Kasturi Halder, she is the Director at the Center for Rare and Neglected Diseases at the University of Notre Dame, about sending Tylor's medical records for the students to review. She was glad to take my information becasue with so few cases they are always looking for new NPC families. I am in the process of gathering all the medical records, I am only waiting on one doctor to get back to me.

I also talked breifly with Dr. Denny Porter, from NIH, about getting Tylor down there for the the NPC Natural History Study. He told me he would be glad to see Tylor and to call Nicole, his assistance, to set up the appointment. Nicole and I talked shortly after we got back. She explained that they would be performing all the test Tylor has had over at the NIH. That means more EEGs, MRIs, another skin biopies and spinal tap, a lot of blood with be taking, eye and hearing exams, and much more. So at first I thought do I really want to put Ty through all this again??? This information they gather from Tylor may help in the future and who knows maybe we will find out how it is processing in him. So we deceided to go for it. So Jill, Ty's Stepmom, Tylor and I are leaving Decemeber 4th and will return on December 9th!! We will keep you posted on how this go down there.

Well know on the the fun stuff...

After the conference we toured around Norfolk. We went on the SS Wisconsin and we drove on the Chesapeake Bay Bridge/Tunnel. That was so cool and weird at the same time. We also visited Grandma Mulgrew's brother in Maryland. We spent a day in D.C. and also got a little bit of relaxation time in before we had to go home. Here are some pictures!!

Virginia Beach

The fishing pier in Virginia Beach

Ty on the SS Wisconsin

See how the bridge goes under the water

Sy and Ty at the Capitol

Tylor and I with the Wright brothers

Eating Crab on the beach

What has Ty been up to??

Hello Everyone!

Tylor has been a very busy little (or should I say big??) boy. A few weeks ago he had a speech evaluation to find out if there is a better way for him to communicate with us. Because the disease is not progressing like we thought it would he is still interacting very well but verbal communication is hard for him. The speech therapist suggested we look into DynaVox. This device looks kind of like the iPad, it is all touch screen but it talks for him. He will be able to take pictures with it and add descriptions. We got to try it out with a DynaVox sales rep last week and I think this will work great for Ty. Tylor should receive his in about three weeks. We have four weeks to try it and make sure that it is the right fit for Ty and if it is it's his!!! I am so excited about this...

Last weekend we took a road trip to Milwaukee so watch the Cubs/Brewers game! Of course the Cubs lost but being the die hard Cubs fans that we are you get use to it! Even though they got beat 6 to 0 Tylor had a great time. He was girl watching most of the game. On our way home we visited Tylor's Great Grandma Pearl, Aunt Janet, and Uncle Terry in Rosco, Illinois. He slept most of the time...he was tried after chasing all the girls at the game.

This week Tylor received a bike from therapy, they are letting us keep it for the summer. He lights up every time he is on it. He rides for about 45 minutes everyday....he is pretty tired when we are done. He thinks it's funny to go fast so I have to run along side of him, what a little stinker!

Ty's in Springfield making a splash!!

Sy's family reunion was this weekend in Springfield, Illinois! It is always a little hard on Tylor to travel and be out of his route but he had so much fun.  He got to spend time with his cousin's and swim! He had a blast in the pool! He splashed me a lot...but don't worry I got him back. Here are some pictures from the weekend. I hope you enjoy them.

Sweet Home Alabama

We I first decided to make the trip to Alabama for the walk I didn't think there was going to be much to do there. Boy was I wrong. The Scottsboro area is in the mountains and it was a beautiful time of year with the leaves changing. There is so much to do from fishing, hiking, boating, and many other outdoor activities to shopping, dining, and bed and breakfasts.

We didn't have a lot of time with the walk on Saturday but we were able to hit Cathedral Caverns and U.S. Space & Rocket Center.

Amber and Ty outside the cave

Me and Ty

The huge opening!

Looking out from the start of the cave

When we got to the Cathedral Caverns we learned that there are only guided tours but we had to be at the school for a meeting about the walk so we wouldn't be able to go on the tour. But the guy that worked there was nice enough to take us on a private tour. The cave is beautiful! The entrance measures 126 feet wide and 25 feet high. Soon after we entered the cave Guy, our guide, pointed out a shark tooth embedded in the ceiling. He explained that the ceiling of the cave was once the bottom of the ocean. Our last spot before having to turn back was the largest stalagmite in the cave. It was huge! After the meeting we wanted to go through the entire cave but there was another person in a wheelchair on the tour so I wouldn't have been able to ride with Tylor. But as least we got a private tour through some of it.

Check out this huge stalagmite

Since we couldn't go through the cave we decided to hit the U.S. Space & Rocket Center in Huntsville. There we were able to see what the inside of space ship and see how they are launched. It was neat to see how the astronauts sleep, use the restroom, store food, and grow plants while in space.

This is how they sleep...weird huh?

Look how big this is compared to Ty's head

And of course we had to go shopping! We found a store called Unclaimed Baggage in Scottsboro. They buy unclaimed baggage by the truckloads! So it is like going to Goodwill but better! The store was huge and we found some great buys...Ty slept most of the time.

HOOK'EM HORNS COUNTRY

Saturday morning before the wedding we took Ty to the capitol. It was so beautiful. We walked around the grounds to the visitor center where Ty got to listen to the history of Texas on an old time telephone. He also got to buy some souvenirs. Then it was onto the capitol building...Tylor had the best seat in the house to look up at the Texas star. I was jealous, because when you are on your feet and looking up it makes you dizzy. It was neat to see all the pictures of the past Governors of Texas on the walls of each floor. After the going through the building we toured the grounds a little more and then headed for the hotel to rest.

Tylor on the old time telephone

This is what Ty is looking at in the above picture

After our nap it was wedding time!! Tylor looked so handsome in his plaid shorts and polo shirt (who am I kidding he always looks handsome). The wedding was beautiful and Ty stayed awake the whole time because he had his eye on the bride, Kristen. After dinner Ty and I went back to the hotel to get some rest because the rest of our trip was going to be very busy.

Tylor looking good at the wedding

Sunday we toured the University of Texas campus and bought our hook'em horns attire.

UT Campus

UT football stadium

Then it was off to Lockhart to Sy's aunt and uncle's house. They have a beautiful backyard with a pool, we spent most of our time there on Sunday and Monday. We even got to see some lizards around the pool. Tuesday we relaxed in the house, it was 101 degrees out!!

Ty after a day of swimming

Wednesday we headed to San Antonio. We went to the river walk and took a boat tour. After the boat tour we ate at a Mexican restaurant where Tylor was serenaded. He thought the one girl was very pretty!! Next was the Alamo. We got to see lots of old guns and knives and even the room where the women and children went during the battle. Tylor got so see the little room they used as their hospital and be both agreed it didn't look very comfortable. Even though we were all tired and hot we had one more stop to make...Cowboys training camp!!! I am a Cowboys fan so I was tickled to go see them, Tylor on the other hand fell asleep. From San Antonio we headed back to Austin. We were scheduled to leave Thursday night so we wanted to get packed and organized because we had more plans for Thursday morning. And before we went to bed we found a scorpion in Sherry's house...yikes!

The river walk

Cillin' on the boat ride

 

Ty liked the one in the middle

Gotta love Texas!!

Thursday we drove around Lake Travis, wow is it beautiful! The water is so blue and the houses were huge. We wanted to go to the flea market but because it was during the week there were not a lot of vendor so we decided to skip it. We grabbed lunch and went to Sherry's to rest before our drive. We left Austin at 7pm and made it to Kansas City by 6:40am, we made great time and Tylor stayed awake most of the time. We stay in Kansas City until 10am and then we were back on the road. We finally arrived in Dubuque at 5:30pm.

Tylor had a great trip. Even with all the activity and heat Ty's seizure remained very low!!! Now that we are back home he is back on schedule and doing great. Physical therapy was a little hard yesterday but after missing three weeks in a row what can we expect.